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The protein encoded by this gene, in combination with autophagy protein 12, functions as an E1-like activating enzyme in a ubiquitin-like conjugating system. The encoded protein is involved in several cellular processes, including autophagic vesicle formation, mitochondrial quality control after oxidative damage, negative regulation of the innate antiviral immune response, lymphocyte development and proliferation, MHC II antigen presentation, adipocyte differentiation, and apoptosis. Several transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
ATG5 (Autophagy Related 5) is a Protein Coding gene. Diseases associated with ATG5 include Spinocerebellar Ataxia, Autosomal Recessive 25 and Stomatitis. Among its related pathways are Macroautophagy and Shigellosis. Gene Ontology (GO) annotations related to this gene include Atg8 ligase activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 9852036 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,ISS | -- |
GO:0005776 | autophagosome | IDA | 15292400 |
GO:0005829 | cytosol | TAS | -- |
GO:0005930 | axoneme | IEA,ISS | -- |
GO:0016020 | membrane | IEA,IDA | 23093945 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways | ||
2 | Macroautophagy |
.34
|
|
3 | Longevity regulating pathway | ||
4 | Innate Immune System |
.61
|
|
5 | Mitophagy |
1.00
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000045 | autophagosome assembly | IEA,ISS | -- |
GO:0000422 | autophagy of mitochondrion | IEA,IBA | 21873635 |
GO:0001974 | blood vessel remodeling | IEA | -- |
GO:0002376 | immune system process | IEA | -- |
GO:0002718 | regulation of cytokine production involved in immune response | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Adalimumab | Approved | Pharma | 602 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | · | 9c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||
SP5: | - | - | - | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ATG5 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ATG5 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ATG5 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ATG5 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Atg5 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ATG5 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ATG5 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ATG5 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | atg5 30 |
|
||
Str.17181 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.23730 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | atg5 30 31 |
|
OneToOne | |
Dr.12686 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010939 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Atg5 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | atg-5 30 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ATG5 31 33 33 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | APG5 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0117800 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7077 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
730897 | Benign: not provided | 106,279,754(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT | |
770178 | Benign: not provided | 106,308,407(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT | |
788412 | Benign: not provided | 106,316,143(-) | T/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
789288 | Benign: not provided | 106,293,114(-) | T/C | INTRON_VARIANT | |
rs1131692265 | Pathogenic: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25. Spinocerebellar ataxia, autosomal recessive, 25 (SCAR25) [MIM:617584] | 106,279,773(-) | T/Ap.Glu122Asp | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv391n21 | CNV | gain | 19592680 |
dgv6134n100 | CNV | gain | 25217958 |
esv24511 | CNV | loss | 19812545 |
esv2615044 | CNV | insertion | 19546169 |
esv26469 | CNV | gain | 19812545 |
esv2657202 | CNV | deletion | 23128226 |
esv2677509 | CNV | deletion | 23128226 |
esv3450548 | CNV | insertion | 20981092 |
esv3610266 | CNV | gain | 21293372 |
esv3610267 | CNV | gain | 21293372 |
esv3610268 | CNV | gain | 21293372 |
esv3610270 | CNV | loss | 21293372 |
esv3610271 | CNV | loss | 21293372 |
esv3610272 | CNV | gain | 21293372 |
esv3610273 | CNV | loss | 21293372 |
nsv1025231 | CNV | gain | 25217958 |
nsv1161442 | CNV | duplication | 26073780 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spinocerebellar ataxia, autosomal recessive 25 |
|
|
stomatitis |
|
|
hepatitis c virus |
|
|
hepatitis |
|
|
vici syndrome |
|
|